Annotation Detail
Information
- Associated Genes
- HAMP
- Associated Variants
-
HAMP p.Gly71Asp (p.G71D)
(
ENST00000222304.5,
ENST00000598398.5 )
HAMP p.Gly71Asp (p.G71D) ( ENST00000222304.5, ENST00000598398.5 ) - Associated Disease
- hemochromatosis type 1
- Source Database
- ClinVar
- Description
- NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) AND Hemochromatosis type 1
- ClinVar Allele ID
- 19325
- ClinVar RefSeq Alternation Syntax
- NM_021175.4:c.212G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000990194
- ClinVar Disease
- Hemochromatosis type 1
- Observed Origin Sample
- unknown
Drugs